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Atypical Aicardi-Goutieres syndrome: is the WRN locus a modifier?
[werner syndrome]
We
describe
a
28
-
year
-old
Turkish
man
with
consanguineous
parents
who
presented
with
an
aged
appearance
with
prematurely
gray
hair
and
scleroderma
-like
skin
,
spastic
paraplegia
,
and
apparent
disability
.
The
proband
and
each
of
his
parents
were
heterozygous
for
a
mutation
in
WRN
,
which
could
not
explain
his
symptoms
.
Exome
sequencing
of
the
proband
's
blood
DNA
showed
a
homozygous
c
.
626
-
1
G
>
C
mutation
in
intron
5
of
the
SAMHD
1
gene
,
which
encodes
a
triphosphohydrolase
involved
in
the
regulation
of
intracellular
dNTP
pools
and
which
is
mutated
in
Aicardi-
Goutieres
syndrome
.
The
RNA
studies
confirmed
aberrant
splicing
of
exon
6
,
and
family
studies
showed
that
both
parents
are
heterozygous
for
this
mutation
.
We
conclude
that
mutations
in
SAMHD
1
-
in
addition
to
causing
an
early
-onset
form
of
encephalopathy
in
Aicardi-
Goutieres
syndrome
-
may
present
with
modest
signs
of
accelerated
aging
similar
to
Werner
syndrome
.
The
extent
to
which
heterozygosity
at
the
WRN
locus
may
modify
the
effect
of
biallelic
SAMHD
1
mutations
is
unknown
.
It
is
conceivable
that
synergistic
effects
of
these
two
mutations
might
be
responsible
for
the
unusual
phenotype
.
Diseases
Validation
Diseases presenting
"early-onset form"
symptom
homocystinuria without methylmalonic aciduria
inclusion body myositis
krabbe disease
werner syndrome
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